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Uncombable hair syndrome 3(UHS3)

MedGen UID:
934615
•Concept ID:
C4310648
•
Disease or Syndrome
Synonym: UHS3
 
Gene (location): TCHH (1q21.3)
 
Monarch Initiative: MONDO:0014990
OMIM®: 617252

Definition

Uncombable hair syndrome (UHS) is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by U. Basmanav et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 (191480). [from OMIM]

Clinical features

From HPO
Brittle hair
MedGen UID:
120480
•Concept ID:
C0263490
•
Disease or Syndrome
Fragile, easily breakable hair, i.e., with reduced tensile strength.
See: Feature record | Search on this feature
Curly hair
MedGen UID:
488919
•Concept ID:
C0558165
•
Finding
See: Feature record | Search on this feature
Uncombable hair
MedGen UID:
348660
•Concept ID:
C1860607
•
Finding
Hair that is disorderly, stands out from the scalp, and cannot be combed flat.
See: Feature record | Search on this feature
Pili canaliculi
MedGen UID:
348148
•Concept ID:
C1860608
•
Finding
A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.
Basmanav FB, Cesarato N, Kumar S, Borisov O, Kokordelis P, Ralser DJ, Wehner M, Axt D, Xiong X, Thiele H, Dolgin V, Gossmann Y, Fricker N, Dewenter MK, Weller K, Suri M, Reichenbach H, Oji V, Addor MC, Ramirez K, Stewart H, Garcia Bartels N, Weibel L, Wagner N, George S, Kilic A, Tantcheva-Poor I, Stewart A, Dikow N, Blaumeiser B, Medvecz M, Blume-Peytavi U, Farrant P, Grimalt R, Bertok S, Bradley L, Eskin-Schwartz M, Birk OS, Bygum A, Simon M, Krawitz P, Fischer C, Hamm H, Fritz G, Betz RC
JAMA Dermatol 2022 Nov 1;158(11):1245-1253. doi: 10.1001/jamadermatol.2022.2319. PMID: 36044230Free PMC Article
Light microscopic hair abnormalities in children: retrospective review of 119 cases in a 10-year period.
Shao L, Newell B
Pediatr Dev Pathol 2014 Jan-Feb;17(1):36-43. Epub 2013 Nov 19 doi: 10.2350/13-09-1375-OA.1. PMID: 24251687

Diagnosis

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.
Basmanav FB, Cesarato N, Kumar S, Borisov O, Kokordelis P, Ralser DJ, Wehner M, Axt D, Xiong X, Thiele H, Dolgin V, Gossmann Y, Fricker N, Dewenter MK, Weller K, Suri M, Reichenbach H, Oji V, Addor MC, Ramirez K, Stewart H, Garcia Bartels N, Weibel L, Wagner N, George S, Kilic A, Tantcheva-Poor I, Stewart A, Dikow N, Blaumeiser B, Medvecz M, Blume-Peytavi U, Farrant P, Grimalt R, Bertok S, Bradley L, Eskin-Schwartz M, Birk OS, Bygum A, Simon M, Krawitz P, Fischer C, Hamm H, Fritz G, Betz RC
JAMA Dermatol 2022 Nov 1;158(11):1245-1253. doi: 10.1001/jamadermatol.2022.2319. PMID: 36044230Free PMC Article
Uncombable hair syndrome and beyond.
Alsabbagh MM
Acta Dermatovenerol Alp Pannonica Adriat 2022 Jun;31(2):49-64. PMID: 35751533
Uncombable hair syndrome.
Calderon P, Otberg N, Shapiro J
J Am Acad Dermatol 2009 Sep;61(3):512-5. doi: 10.1016/j.jaad.2009.01.006. PMID: 19700017
Uncombable hair (cheveux incoiffables, pili trianguli et canaliculi) syndrome: brief review and role of scanning electron microscopy in diagnosis.
Hicks J, Metry DW, Barrish J, Levy M
Ultrastruct Pathol 2001 Mar-Apr;25(2):99-103. PMID: 11407534
Uncombable-hair syndrome.
Matis WL, Baden H, Green R, Boiko S, Lucky AW, Hornstein L, Ashraf M, Hood AF
Pediatr Dermatol 1987 Nov;4(3):215-9. doi: 10.1111/j.1525-1470.1987.tb00781.x. PMID: 3422852

Therapy

Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin.
Boccaletti V, Zendri E, Giordano G, Gnetti L, De Panfilis G
Pediatr Dermatol 2007 May-Jun;24(3):E14-6. doi: 10.1111/j.1525-1470.2007.00385.x. PMID: 17509110
Uncombable hair syndrome: observations on response to biotin and occurrence in siblings with ectodermal dysplasia.
Shelley WB, Shelley ED
J Am Acad Dermatol 1985 Jul;13(1):97-102. doi: 10.1016/s0190-9622(85)70150-8. PMID: 4031156

Prognosis

Transglutaminase diseases: from biochemistry to the bedside.
Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123

Clinical prediction guides

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.
Basmanav FB, Cesarato N, Kumar S, Borisov O, Kokordelis P, Ralser DJ, Wehner M, Axt D, Xiong X, Thiele H, Dolgin V, Gossmann Y, Fricker N, Dewenter MK, Weller K, Suri M, Reichenbach H, Oji V, Addor MC, Ramirez K, Stewart H, Garcia Bartels N, Weibel L, Wagner N, George S, Kilic A, Tantcheva-Poor I, Stewart A, Dikow N, Blaumeiser B, Medvecz M, Blume-Peytavi U, Farrant P, Grimalt R, Bertok S, Bradley L, Eskin-Schwartz M, Birk OS, Bygum A, Simon M, Krawitz P, Fischer C, Hamm H, Fritz G, Betz RC
JAMA Dermatol 2022 Nov 1;158(11):1245-1253. doi: 10.1001/jamadermatol.2022.2319. PMID: 36044230Free PMC Article
Uncombable hair syndrome and beyond.
Alsabbagh MM
Acta Dermatovenerol Alp Pannonica Adriat 2022 Jun;31(2):49-64. PMID: 35751533
Transglutaminase diseases: from biochemistry to the bedside.
Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Ü Basmanav FB, Cau L, Tafazzoli A, Méchin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu AM, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Büchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC
Am J Hum Genet 2016 Dec 1;99(6):1292-1304. Epub 2016 Nov 17 doi: 10.1016/j.ajhg.2016.10.004. PMID: 27866708Free PMC Article
Uncombable hair syndrome: observations on response to biotin and occurrence in siblings with ectodermal dysplasia.
Shelley WB, Shelley ED
J Am Acad Dermatol 1985 Jul;13(1):97-102. doi: 10.1016/s0190-9622(85)70150-8. PMID: 4031156

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed (OMIM)
      Related literature resources in PubMed

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